Abstract

In 2012, neonatal screening (NS) for congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency has been introduced in Ukraine. For a year, as part of the screening we have examined 493,580 newborns. In total, in 2013 there were detected 47 new cases of CAH, out of which in 36.2 % cases the disease was diagnosed out of screening, by clinical manifestations. According to the calculations, the cost of one detected case of CAH averaged 219,863.0 hryvnias (27,482.0 US dollars at the rate of 2013). To optimize NS and to reduce budget expenditures, it is necessary to exclude technical errors during its conducting, to establish a link between medico-genetic centers and pediatric service, as well as to carry out NS not only in boys and infants with abnormal structure of the external genitalia.